PSG8

Summary

PSG8 (pregnancy specific beta-1-glycoprotein 8, HGNC:9525) is a protein-coding gene on chromosome 19q13.2, encoding Pregnancy-specific beta-1-glycoprotein 8 (Q9UQ74).

The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).

Source: NCBI Gene 440533 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 149 total
• MANE Select transcript: NM_182707

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9525
Approved symbol	PSG8
Name	pregnancy specific beta-1-glycoprotein 8
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000124467
Ensembl biotype	protein_coding
OMIM	176397
Entrez	440533

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 3 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000306511, ENST00000404209, ENST00000406636, ENST00000466163, ENST00000469260, ENST00000478387, ENST00000593692, ENST00000600709

RefSeq mRNA: 3 — MANE Select: NM_182707 NM_001130167, NM_001130168, NM_182707

CCDS: CCDS33037, CCDS46090, CCDS46091

Canonical transcript exons

ENST00000306511 — 5 exons

Exon	Start	End
ENSE00002236777	42754233	42754587
ENSE00002508409	42763916	42764281
ENSE00003163264	42765518	42765678
ENSE00003498892	42758002	42758280
ENSE00003504707	42754988	42755266

Expression profiles

Bgee: expression breadth broad, 37 present calls, max score 87.29.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7269 / max 493.2227, expressed in 26 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181211	0.7101	24
208846	0.0168	4

Top tissues by expression

110 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.29	gold quality
placenta	UBERON:0001987	81.57	gold quality
stromal cell of endometrium	CL:0002255	62.26	gold quality
adrenal tissue	UBERON:0018303	57.93	gold quality
islet of Langerhans	UBERON:0000006	53.53	gold quality
sural nerve	UBERON:0015488	47.43	gold quality
hindlimb stylopod muscle	UBERON:0004252	47.26	silver quality
colonic epithelium	UBERON:0000397	46.20	gold quality
superior frontal gyrus	UBERON:0002661	43.00	silver quality
skeletal muscle tissue	UBERON:0001134	41.88	gold quality
lower esophagus mucosa	UBERON:0035834	41.14	silver quality
pancreas	UBERON:0001264	41.00	gold quality
muscle tissue	UBERON:0002385	39.55	gold quality
primary visual cortex	UBERON:0002436	38.93	gold quality
tonsil	UBERON:0002372	38.19	silver quality
bone marrow cell	CL:0002092	38.07	gold quality
monocyte	CL:0000576	37.43	gold quality
ganglionic eminence	UBERON:0004023	37.14	gold quality
leukocyte	CL:0000738	37.00	gold quality
cortex of kidney	UBERON:0001225	36.83	gold quality
corpus callosum	UBERON:0002336	36.68	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
mucosa of transverse colon	UBERON:0004991	34.68	gold quality
body of pancreas	UBERON:0001150	33.87	gold quality
bone marrow	UBERON:0002371	33.84	gold quality
prefrontal cortex	UBERON:0000451	33.83	gold quality
granulocyte	CL:0000094	33.79	gold quality
liver	UBERON:0002107	33.63	gold quality
adipose tissue	UBERON:0001013	33.50	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting PSG8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-3940-5P	99.14	65.26	493
HSA-MIR-4507	99.14	65.27	515
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-16-1-3P	98.70	69.23	1538
HSA-MIR-299-5P	98.56	71.14	1140
HSA-MIR-3158-3P	98.45	64.25	560
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-124-5P	98.11	67.65	1095
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-921	97.09	66.45	562
HSA-MIR-6515-5P	97.08	65.48	1219
HSA-MIR-193A-5P	95.70	65.33	613
HSA-MIR-7848-3P	95.69	65.00	363
HSA-MIR-3174	94.63	63.64	577

Cross-species orthologs

0 orthologs

Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), CEACAM8 (ENSG00000124469), HEPACAM (ENSG00000165478), PSG6 (ENSG00000170848), CEACAM3 (ENSG00000170956), PSG9 (ENSG00000183668), CEACAM19 (ENSG00000186567), HEPACAM2 (ENSG00000188175), PSG5 (ENSG00000204941), CEACAM18 (ENSG00000213822), CEACAM16 (ENSG00000213892), VSTM5 (ENSG00000214376), PSG3 (ENSG00000221826), PSG7 (ENSG00000221878), PSG1 (ENSG00000231924), PSG2 (ENSG00000242221), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)

Protein

Protein identifiers

Pregnancy-specific beta-1-glycoprotein 8 — Q9UQ74 (reviewed: Q9UQ74)

All UniProt accessions (2): Q9UQ74, M0QYP3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the immunoglobulin superfamily. CEA family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9UQ74-1	1	yes
Q9UQ74-2	2
Q9UQ74-3	3

RefSeq proteins (3): NP_001123639, NP_001123640, NP_874366* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050831	CEA_cell_adhesion	Family

Pfam: PF07686, PF13895, PF13927

UniProt features (22 total): glycosylation site 6, domain 4, disulfide bond 3, sequence conflict 3, splice variant 2, sequence variant 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UQ74-F1	87.54	0.74

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (3): 169–217, 262–310, 354–394

Glycosylation sites (6): 268, 303, 61, 104, 111, 199

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-202733	Cell surface interactions at the vascular wall

MSigDB gene sets: 16 (showing top): LI_CISPLATIN_RESISTANCE_DN, REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL, MIR766_5P, MIR877_3P, MIR6727_3P, MIR4722_3P, MIR4507, MIR3940_5P, MEBARKI_HCC_PROGENITOR_WNT_DN, DESCARTES_MAIN_FETAL_TROPHOBLAST_GIANT_CELLS, DESCARTES_FETAL_ADRENAL_CSH1_CSH2_POSITIVE_CELLS, DESCARTES_FETAL_PLACENTA_TROPHOBLAST_GIANT_CELLS, ZSCAN4_TARGET_GENES, FIGAROL_EGFR_TKI_DRUG_TOLERANT_CELL_UP, chr19q13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

948 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PSG8	CSH1	P01243	767
PSG8	CSH1	P01243	764
PSG8	PAPPA	Q13219	620
PSG8	SELP	P16109	582
PSG8	SDC1	P18827	470
PSG8	ALPP	P05187	457
PSG8	PSEN1	P49768	445
PSG8	AFP	P02771	441
PSG8	CEBPB	P17676	432
PSG8	PIK3R4	Q99570	431
PSG8	PSG6	Q00889	424
PSG8	H2BC12	O60814	420
PSG8	INS	P01308	420
PSG8	TFPI2	P48307	394
PSG8	LGALS1	P09382	392

IntAct

4 interactions, top by confidence:

A	B	Type	Score
PSG8	PEX7	psi-mi:“MI:0914”(association)	0.530
PSG8	MGRN1	psi-mi:“MI:0914”(association)	0.530

BioGRID (69): PSG1 (Affinity Capture-MS), CELSR3 (Affinity Capture-MS), PSG4 (Affinity Capture-MS), MCM9 (Affinity Capture-MS), PEX7 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), GFM2 (Affinity Capture-MS), CBWD3 (Affinity Capture-MS), ACOT9 (Affinity Capture-MS), RHOBTB1 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), FAT4 (Affinity Capture-MS), VWDE (Affinity Capture-MS), CPE (Affinity Capture-MS), ANKRD46 (Affinity Capture-MS)

ESM2 similar proteins: A0A0A0MS04, A0A0A6YYG2, A0A0A6YYG3, A0A0B4J1U6, A0A0B4J2E0, A0A0J9YX75, A0A0J9YXY3, A0A0K0K1A5, A0A0K0K1D8, A0A0K0K1G6, A0A0K0K1G8, A8MXK1, O75019, O76036, P01733, P06731, P0DPF7, P11464, P11465, P13688, P31997, P40199, Q00887, Q00888, Q00889, Q08334, Q0V881, Q13046, Q13241, Q14002, Q15238, Q16557, Q28085, Q5M7U7, Q5SQ64, Q6MG56, Q6PI73, Q7TPB4, Q810J1, Q863H3

Diamond homologs: A0A0B4J1L0, D3ZQE1, E9QA28, O75871, P06731, P11464, P11465, P13688, P16573, P31809, P31997, P40198, P40199, Q00887, Q00888, Q00889, Q13046, Q14002, Q15238, Q16557, Q2WEN9, Q3KPI0, Q3UKK2, Q61400, Q63111, Q810J1, Q925P2, Q9D2Z1, Q9UQ72, Q9UQ74, A8MTB9, A0A140LHF2, Q8BFR2, Q8N475, Q9PWR4, P35329, Q4VAH7, Q7TPB4, Q8R007, Q8R2Y2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

149 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	125
Likely benign	21
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

687 predictions. Top by Δscore:

Variant	Effect	Δscore
19:42765512:CCTCA:C	donor_loss	0.9800
19:42765513:CTCA:C	donor_loss	0.9800
19:42765514:TCACC:T	donor_loss	0.9800
19:42765515:CACCT:C	donor_loss	0.9800
19:42754584:CCAT:C	acceptor_gain	0.9700
19:42754585:CATC:C	acceptor_gain	0.9700
19:42755267:C:CC	acceptor_gain	0.9700
19:42755269:G:C	acceptor_gain	0.9700
19:42758281:C:CC	acceptor_gain	0.9500
19:42755265:CG:C	acceptor_gain	0.9400
19:42755265:CGCTG:C	acceptor_gain	0.9400
19:42763914:A:AC	donor_gain	0.9200
19:42763915:C:CC	donor_gain	0.9200
19:42764282:C:CC	acceptor_gain	0.9100
19:42754587:TC:T	acceptor_loss	0.9000
19:42754588:C:CA	acceptor_loss	0.9000
19:42754589:T:A	acceptor_loss	0.9000
19:42754588:C:CC	acceptor_gain	0.8800
19:42754602:A:C	acceptor_loss	0.8800
19:42755262:CTTCG:C	acceptor_gain	0.8800
19:42754986:A:AC	donor_gain	0.8700
19:42754987:C:CC	donor_gain	0.8700
19:42755269:G:GC	acceptor_gain	0.8700
19:42754585:CAT:C	acceptor_gain	0.8600
19:42765516:A:AC	donor_gain	0.8600
19:42765517:C:CC	donor_gain	0.8600
19:42765536:T:TA	donor_gain	0.8600
19:42755780:A:T	acceptor_gain	0.8300
19:42758000:A:AC	donor_gain	0.8300
19:42758001:C:CC	donor_gain	0.8300

AlphaMissense

2759 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:42755047:C:G	C310S	0.977
19:42755048:A:T	C310S	0.977
19:42754478:C:A	W366C	0.973
19:42754478:C:G	W366C	0.973
19:42758171:C:A	W180C	0.966
19:42758171:C:G	W180C	0.966
19:42754480:A:G	W366R	0.964
19:42754480:A:T	W366R	0.964
19:42758027:A:C	S228R	0.962
19:42758027:A:T	S228R	0.962
19:42758029:T:G	S228R	0.962
19:42758061:C:G	C217S	0.961
19:42758062:A:T	C217S	0.961
19:42755048:A:G	C310R	0.955
19:42758173:A:G	W180R	0.954
19:42758173:A:T	W180R	0.954
19:42755157:C:A	W273C	0.944
19:42755157:C:G	W273C	0.944
19:42764147:A:G	W67R	0.944
19:42764147:A:T	W67R	0.944
19:42764026:A:G	L107P	0.942
19:42755191:C:G	C262S	0.938
19:42755192:A:T	C262S	0.938
19:42754516:A:G	C354R	0.936
19:42758062:A:G	C217R	0.935
19:42754514:A:C	C354W	0.934
19:42755013:A:C	S321R	0.934
19:42755013:A:T	S321R	0.934
19:42755015:T:G	S321R	0.934
19:42758205:C:G	C169S	0.934

dbSNP variants (sampled 300 via entrez): RS1000140296 (19:42752778 C>A,T), RS1000292977 (19:42767554 G>A), RS1000352528 (19:42754096 A>G), RS1000744304 (19:42753500 T>A,C), RS1001154369 (19:42759708 A>G), RS1001156721 (19:42753650 G>C), RS1001177191 (19:42763044 G>A,C), RS1001261733 (19:42759862 C>G,T), RS1001345969 (19:42765726 G>A,T), RS1001460048 (19:42759591 G>A), RS1001903855 (19:42767360 G>T), RS1001954257 (19:42764879 T>A,C,G), RS1002240726 (19:42753712 C>T), RS1002252198 (19:42753841 C>A,T), RS1002318497 (19:42759994 C>T)

Disease associations

OMIM: gene MIM:176397 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST011359_16	Venous thromboembolism	5.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
sotorasib	affects cotreatment, decreases expression	1
propionaldehyde	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
sulindac sulfide	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
abrine	increases expression	1
trametinib	decreases expression, affects cotreatment	1
NVP-BKM120	affects cotreatment, decreases expression	1
Air Pollutants	increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.